Skip to main content

7 Result(s)

within D. Möslinger Remove this filter

and

  1. Article

    Open Access

    The natural history of classic galactosemia: lessons from the GalNet registry

    Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A galactose-restricted diet has proven to b...

    M. E. Rubio-Gozalbo, M. Haskovic, A. M. Bosch… in Orphanet Journal of Rare Diseases (2019)

    Download PDF (838 KB) View Article

  2. Article

    Open Access

    Pompe disease in Austria: clinical, genetic and epidemiological aspects

    In this study, we performed a survey of infantile and late-onset Pompe disease (IOPD and LOPD) in Austria. Paediatric and neuromuscular centres were contacted to provide a set of anonymized clinical and geneti...

    W. N. Löscher, M. Huemer, T. M. Stulnig, P. Simschitz, S. Iglseder… in Journal of Neurology (2018)

    Download PDF (625 KB) View Article

  3. No Access

    Article

    Free asymmetric dimethylarginine (ADMA) is low in children and adolescents with classical phenylketonuria (PKU)

    Free asymmetric dimethylarginine (ADMA) is a competitive inhibitor of the nitric oxide synthases (NOS). Suppression of nitric oxide (NO) synthesis increases the risk of atherosclerosis. Nevertheless, in the co...

    M. Huemer, B. Simma, D. Mayr, D. Möslinger… in Journal of Inherited Metabolic Disease (2012)

  4. No Access

    Article

    Growth and body composition in children with classical phenylketonuria: Results in 34 patients and review of the literature

    Treatment of phenylketonuria (PKU, OMIM 261600) means a diet restricted in natural protein and supplemented with phenylalanine (Phe)-free l-amino acid mixtures. Growth impairment has been described even in patien...

    M. Huemer, C. Huemer, D. Möslinger, D. Huter… in Journal of Inherited Metabolic Disease (2007)

  5. No Access

    Article

    Glykogenose 1non-a

    J. Crone, D. Möslinger, M. Huemer, W. D. Huber… in Monatsschrift Kinderheilkunde (2001)

  6. No Access

    Article

    Tyrosinämie Typ I Klinische und biochemische Symptome bei 3 Säuglingen

    J. Crone, W.D. Huber, D. Möslinger, F. Felberbauer… in Monatsschrift Kinderheilkunde (2000)

  7. No Access

    Article

    Laboratoriumsuntersuchungen beim Lungeninfarkt

    D. Möslinger in Beiträge zur Klinik und Erforschung der Tu… (1968)